@article{apps2013influence,
author = {Apps, Richard and Qi, Ying and Carlson, Jonathan M. and Chen, Haoyan and Gao, Xiaojiang and Thomas, Rasmi and Yuki, Yuko and Prete, Greg Q. Del and Goulder, Philip and Brumme, Zabrina L. and Brumme, Chanson J. and John, Mina and Mallal, Simon and Nelson, George and Bosch, Ronald and Heckerman, David and Stein, Judy L. and Soderberg, Kelly A. and Moody, M. Anthony and Denny, Thomas N. and Zeng, Xue and Fang, Jingyuan and Moffett, Ashley and Lifson, Jeffrey D. and Goedert, James J. and Buchbinder, Susan and Kirk, Gregory D. and Fellay, Jacques and McLaren, Paul and Deeks, Steven G. and Pereyra, Florencia and Walker, Bruce and Michael, Nelson L. and Weintrob, Amy and Wolinsky, Steven and Liao, Wilson and Carrington, Mary},
title = {Influence of HLA-C Expression Level on HIV Control},
year = {2013},
month = {April},
abstract = {HLA-C expression and HIV immune control
In collaboration with  Mary Carrington's group, we showed in  Science that the quantity of HLA-C surface protein correlates with HIV disease progression, the probability than HLA-C epitopes will be targeted by the immune system, and the probability that HIV will escape within those epitopes. Mary further showed that HLA-C expression levels are linked to some auto-immune diseases. This is an important study that highlights the the role of HLA-C (which is generally ignored in the field) and demonstrates how our models of selection can be used to generate and test hypotheses. As always, this was a hugely collaborative effort, making key use of data from Philip Goulder, Zabrina Brumme and many others. The MSR Connections team wrote a  blog post providing a nice high-level description.
Abstract
A variant upstream of human leukocyte antigen C (HLA-C) shows the most significant genome-wide effect on HIV control in European Americans and is also associated with the level of HLA-C expression. We characterized the differential cell surface expression levels of all common HLA-C allotypes and tested directly for effects of HLA-C expression on outcomes of HIV infection in 5243 individuals. Increasing HLA-C expression was associated with protection against multiple outcomes independently of individual HLA allelic effects in both African and European Americans, regardless of their distinct HLA-C frequencies and linkage relationships with HLA-B and HLA-A. Higher HLA-C expression was correlated with increased likelihood of cytotoxic T lymphocyte responses and frequency of viral escape mutation. In contrast, high HLA-C expression had a deleterious effect in Crohn’s disease, suggesting a broader influence of HLA expression levels in human disease.},
url = {http://approjects.co.za/?big=en-us/research/publication/influence-hla-c-expression-level-hiv-control/},
pages = {87-91},
journal = {Science},
volume = {340},
edition = {Science},
number = {6128},
}